Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGATGCCTTGCTCTCCAAAGTTGG[C/T]ACACTCATACCGCTTGGAGACATCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602434 MIM: 606441 MIM: 607163 | ||||||||||||||||||||
Literature Links: |
AUP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AUP1 - ancient ubiquitous protein 1 | ||||||
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There are no transcripts associated with this gene. |
DQX1 - DEAQ-box RNA dependent ATPase 1 | ||||||
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There are no transcripts associated with this gene. |
HTRA2 - HtrA serine peptidase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321727.1 | 2024 | Intron | NP_001308656.1 | |||
NM_001321728.1 | 2024 | Intron | NP_001308657.1 | |||
NM_013247.4 | 2024 | Intron | NP_037379.1 | |||
NM_145074.2 | 2024 | Intron | NP_659540.1 |
LOXL3 - lysyl oxidase like 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289164.1 | 2024 | Missense Mutation | ACC,GCC | T,A 510 | NP_001276093.1 | |
NM_001289165.1 | 2024 | Missense Mutation | ACC,GCC | T,A 294 | NP_001276094.1 | |
NM_032603.3 | 2024 | Missense Mutation | ACC,GCC | T,A 655 | NP_115992.1 | |
XM_011533134.2 | 2024 | Missense Mutation | ACC,GCC | T,A 655 | XP_011531436.1 | |
XM_017005112.1 | 2024 | Missense Mutation | ACC,GCC | T,A 294 | XP_016860601.1 |